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  3. KRT5

KRT5 (Keratin 5)

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Summary of KRT5

The gene codes for a protein, keratin 5. Mutations are linked to epidermolysis bullosa simplex [R].

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Protein names

Recommended name:

Keratin, type II cytoskeletal 5

Short name:

K5

Alternative name(s):

58 kDa cytokeratin
Cytokeratin-5
CK-5
Keratin-5
Type-II keratin Kb5

KRT5 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS11170164 (KRT5) ??
  2. RS57499817 (KRT5) ??

Top Gene-Substance Interactions

KRT5 Interacts with These Diseases

Disease Score

Substances That Increase KRT5

Substances Interaction Organism Category

Substances That Decrease KRT5

Substances Interaction Organism Category

Advanced Summary

     Dowling-Degos disease At least four mutations in the KRT5 gene have been found to cause Dowling-Degos disease. This condition is characterized by various skin abnormalities, particularly a lacy pattern of abnormally dark skin coloring (hyperpigmentation) that occurs most often in the body's folds and creases. Most of these mutations lead to the production of a keratin 5 protein that is abnormally small and nonfunctional or prevent any protein from being produced from the gene. A reduced amount of functional keratin 5 can impair the formation of keratin intermediate filaments. As a result, the organization of the epidermis is altered, leading to the development of different types of skin abnormalities. Additionally, a shortage of keratin 5 may disrupt the movement of pigment-carrying melanosomes into keratinocytes, where they are needed for normal skin pigmentation. This disruption of melanosome transport is thought to cause the pigmentation abnormalities seen in individuals with Dowling-Degos disease. epidermolysis bullosa simplex More than 100 mutations in the KRT5 gene have been identified in people with epidermolysis bullosa simplex, a condition that causes the skin to be very fragile and to blister easily. Most of these mutations alter single protein building blocks (amino acids) used to make keratin 5. The most severe form of epidermolysis bullosa simplex, the Dowling-Meara type, usually results from changes in regions of keratin 5 that are essential for the normal assembly of keratin intermediate filaments. Milder forms of the disorder, including the localized type (formerly called the Weber-Cockayne type) and a form known as the other generalized type (formerly called the Koebner type), are often caused by changes affecting less critical regions of the protein. Another form of the disorder called epidermis bullosa simplex with mottled pigmentation typically results from a particular KRT5 mutation. This mutation replaces the amino acid proline with the amino acid leucine at protein position 25 (written as Pro25Leu or P25L). The KRT5 gene mutations responsible for epidermolysis bullosa simplex change the structure and function of keratin 5, preventing it from working effectively with keratin 14 and interfering with the assembly of the keratin intermediate filament network. Mutations that cause severe forms of the disorder severely disrupt the assembly of keratin intermediate filaments, while mutations that result in milder forms impair keratin filament assembly to a lesser degree. A disruption in this network makes keratinocytes fragile and prone to rupture. Minor trauma to the skin, such as rubbing or scratching, can cause these cells to break down, resulting in the formation of painful, fluid-filled blisters.

     The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 5 is produced in cells called keratinocytes found in the outer layer of the skin (the epidermis). Keratin 5 partners with a similar protein, keratin 14 (produced from the KRT14 gene), to form molecules called keratin intermediate filaments. These filaments assemble into strong networks that help attach keratinocytes together and anchor the epidermis to underlying layers of skin. The network of keratin intermediate filaments provides strength and resiliency to the skin and protects it from being damaged by friction and other everyday physical stresses. Researchers believe that keratin 5 may also play a role in transporting melanosomes, which are cellular structures that produce a pigment called melanin. The transport of these structures into keratinocytes is important for normal skin coloration (pigmentation).

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • GR
  • GR-alpha
  • GR-beta
  • p53
  • Nkx3-1 v1
  • AP-2gamma
  • Nkx3-1

Gene Pathways:

  • Cell-Cell communication

Molecular Function:

  • Scaffold Protein Binding
  • Structural Constituent Of Cytoskeleton

Biological Processes:

  • Epidermis Development
  • Hemidesmosome Assembly
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

58 kDa cytokeratin| CB1_000606067| CK5| CK-5| ckii| cytokeratin 5| cytokeratin-5| DDD| DDD1| EBS2| epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types| GW7_03780| K5| Keratin-5| keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)| keratin 5, type II| keratin 75| keratin complex 2, basic, gene 5| Keratin, type II cytoskeletal 5| Keratin, type II cytoskeletal 5 isoform 13-like protein| keratin, type II cytoskeletal 60 kDa, component III| Krt2-5| KRT5A| KRT75| M91_10642| PAL_GLEAN10005094| Sak57| Tfip8| tuftelin interacting protein 8| type II alpha-keratin IIA| type II cytokeratin| type-II keratin Kb5| zfCKII| krt5

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